Rare Glycogen Storage Diseases Natural History Study
Duke University
Summary
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.
Description
The immediate goal of this research is to create a natural history database to collect information from individuals who have a rare GSD. A repository of clinical, laboratory, and biochemical information on individuals with a rare GSD will allow a more definitive description of the different subtypes to be developed, which will permit development of treatment strategies in the future. Duke will be the only site where this study takes place. However, since these are rare disorders, participants who receive care at other institutions will be included. The investigators will collect retrospective…
Eligibility
- Age range
- 0–90 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases) * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases) * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue * One variant in causative gene with evidence of disease, per a clinician * Histology as confirmed by a clinician * Able to provide informed consent for self (adults) or affected…
Interventions
- OtherNo intervention
Observational. Natural history study.
Location
- Duke UniversityDurham, North Carolina